The rare condition, known as BAP1 tumour susceptibility syndrome, increases the risk of developing cancers of the skin, eyes, kidneys and the tissue covering the chest and abdomen. The condition manifests as a coloured streak, usually white or red, running the length of the nail.
Sometimes this may be accompanied by thickening of the nail below the discoloration and thickening of the tip of the nail. The NIH study examined 47 individuals with the syndrome from 35 different families. 88% of the participants over the age of 30 with BAP1 tumor predisposition syndrome had onychopapilloma tumors affecting multiple nails.
As a consequence of these findings, researchers are now advocating for nail screening, especially in patients with a family history of melanoma. Report co-author and genetic counsellor Alexandra Lebenson said:
"When asked about nail health during a baseline genetic assessment, one very astute patient reported that he had noticed subtle changes in his nails. His comment prompted us to systematically assess other participants for nail changes and discover this new finding."
The World Health Organization (WHO) states that melanoma is a severe form of skin cancer that can be fatal if not detected early. Although noticeable changes in moles or skin lesions are commonly associated with melanoma, there are many more inconspicuous signs that people should be vigilant for. Spotting them in time can be vital for diagnosis and treatment.
Edward Cowen, head of dermatology consultant services at the NIH, noted:
"This abnormality is rare in the general population and we believe that the presence of nail changes suggestive of onychopapillomas on multiple nails should prompt consideration of the diagnosis of BAP1 tumour predisposition syndrome."
Experts suggest that the condition is linked to mutations in the BAP1 gene, known for its role as a tumor suppressor, among several other functions.
Rafit Hasan, a co-author of the study, noted the following:
"This discovery is an excellent example of how multidisciplinary teams and natural history research can reveal insights into rare diseases." Regular skin checks by a dermatologist are recommended , especially if a patient notices anything unusual under their fingernails.
Dr. Samuel Ejadi, chief of medical oncology at City of Hope Phoenix, explained why this is crucial:
"Less than 10% of melanomas occur on the hands and feet, including the fingers. Sometimes people see a dark colour under the nail and it can be misdiagnosed as a fungus, bleeding or some other benign problem. Another problem is that some melanomas, including under the nails, are flesh-colored and can be mistaken for a wart." | BGNES
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